ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828638227
Gene: EPB41
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362943.1:p.Ser639Asn
CA339526849
NM_001376014.1:c.1916G>A